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Molecular biology / DNA / Genetic mapping / American College of Medical Genetics / Mutalyzer / Leiden Open Variation Database / Exome sequencing / Human genome / Full genome sequencing / Biology / Genetics / Genomics


© American College of Medical Genetics and Genomics ACMG Standards and Guidelines Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American
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Document Date: 2015-03-05 15:46:29


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City

Columbus / Gaithersburg / Denver / Boston / Phoenix / Cambridge / Los Angeles / Chicago / /

Company

Molecular Genetics Laboratory / 6Cytogenetics/Molecular Genetics Laboratory / 15Partners Laboratory / Emory Genetics Laboratory / /

Continent

North America / /

Country

Canada / United States / /

Currency

pence / /

/

Facility

National Center / Medical College of Wisconsin / University of Utah / Science University / American College of Medical Genetics / College of American Pathologists / Emory University / Nationwide Children’s Hospital / Children’s Hospital / University of Colorado Anschutz Medical School / University of California Los Angeles School / Ohio State University College of Medicine / Phoenix Children’s Hospital / University of Chicago / Women’s Hospital / Laboratory Medicine / ARUP Institute / /

IndustryTerm

active site / prediction software / silico tools / variant site / silico predictive algorithms / clinical systems / splice site prediction tools / silico algorithms / splice site / potential scoring systems / prediction algorithms / quality clinical laboratory services / expected carrier frequency / gene product / software programs / advance online publication / /

MedicalCondition

hypertrophic cardiomyopathy / gene’s disease / disorder / hirsutism / Pediatric disease / breast cancer / Mendelian disease / dominant disorder / cancer / Mendelian disorder / diseases / specific disease / epilepsy / pathogenic / cystic fibrosis / Mendelian disorders / dominant hypertrophic cardiomyopathy / Locus/disease / colon cancer / Cornelia de Lange syndrome / multigenic nonMendelian complex disorders / PM3 For recessive disorders / cystic fibrosis / disease / rare disease / autosomal dominant disorder / rare Mendelian disorder / fully penetrant dominant gene/disorder / genetic disorders / /

MedicalTreatment

embryo transfer / /

Organization

Medical College of Wisconsin / Milwaukee / American College of Medical Genetics / The University of Chicago / Chicago / College of American Pathologists / University of Utah / Salt Lake City / National Center for Biotechnology Information RefSeq / Association for Molecular Pathology / Workgroup / the American College / Colorado Anschutz Medical School / Nationwide Children’s Hospital / ARUP Institute for Clinical and Experimental Pathology / Harvard Medical School / Ohio State University College of Medicine / Human Genome Variation Society / Medical Genetics / Knight Diagnostic Laboratories / Oregon Health & Science University / Portland / University of Colorado / Women’s Hospital / Department of Pathology / Brigham & Women / Department of Molecular / ACMG Board of Directors / Phoenix Children’s Hospital / Emory University / Atlanta / AMP Board of Directors / Department of Human Genetics / University of California Los Angeles School of Medicine / International Agency for Research / /

Person

Heidi L. Rehm / Sherri Bale / Cornelia de Lange / Karl Voelkerding / Elaine Spector / Madhuri Hegde / David Bick / Soma Das / Elaine Lyon / Sue Richards / Wayne W. Grody / Julie Gastier-Foster / /

Position

molecular genetic pathologist / representative / messenger / /

Product

Soma / PS2 / PS3 / adenosine / /

ProgrammingLanguage

php / /

ProvinceOrState

Ohio / Utah / California / Georgia / Arizona / Colorado / Wisconsin / Maryland / Illinois / Oregon / Massachusetts / /

Technology

pharmacogenomic / genotyping / html / Human Genome / DNA Chip / splicing prediction algorithms / genotype / Genomics / Biotechnology / silico predictive algorithms / ATG / http / SNP / /

URL

http /

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